Name

mottled pigmentation of the trunk and proximal extremities Gene Set

From HPO Gene-Disease Associations

genes associated with the mottled pigmentation of the trunk and proximal extremities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Mottled Pigmentation Of The Trunk And Proximal Extremities Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Mottled Pigmentation Of The Trunk And Proximal Extremities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Femoral neck bone mineral density and trunk fat mass adjusted by trunk lean mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Femoral neck bone mineral density and trunk fat mass adjusted by trunk lean mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Epidermolysis bullosa simplex with mottled pigmentation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis bullosa simplex with mottled pigmentation from the curated CTD Gene-Disease Associations dataset.

mottled pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the mottled pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Mottled Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Mottled Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Epidermolysis bullosa simplex with mottled pigmentation Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Epidermolysis bullosa simplex with mottled pigmentation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Trunk fat mass adjusted for trunk lean mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Trunk fat mass adjusted for trunk lean mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

mottled Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term mottled in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

mottled coat Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the mottled coat phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

mottled coat Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the mottled coat phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Symmetrical dyschromatosis of extremities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Symmetrical dyschromatosis of extremities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

extremities Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term extremities in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

duplication of bones involving the upper extremities Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of bones involving the upper extremities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

muscle hypertrophy of the lower extremities Gene Set

From HPO Gene-Disease Associations

genes associated with the muscle hypertrophy of the lower extremities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the extremities Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the extremities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the musculature of the extremities Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the musculature of the extremities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia involving bones of the extremities Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia involving bones of the extremities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symmetrical Dyschromatosis Of Extremities Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Symmetrical Dyschromatosis Of Extremities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Aplasia/Hypoplasia Of The Extremities Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Aplasia/Hypoplasia Of The Extremities in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Short Extremities Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Extremities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Muscle Hypertrophy Of The Lower Extremities Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Muscle Hypertrophy Of The Lower Extremities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Cramps Of Lower Extremities Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Cramps Of Lower Extremities in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Symmetrical dyschromatosis of extremities Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Symmetrical dyschromatosis of extremities phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

melanocyte development and pigmentation pathway Gene Set

From Biocarta Pathways

proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset.

atypical nevi (>5mm with irregular edge and pigmentation) Gene Set

From HPO Gene-Disease Associations

genes associated with the atypical nevi (>5mm with irregular edge and pigmentation) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Skin pigmentation (conditioned on rs1426654 and rs35397) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Skin pigmentation (conditioned on rs1426654 and rs35397) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Skin, hair and eye pigmentation (multivariate analysis) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Skin, hair and eye pigmentation (multivariate analysis) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Primary somatosensory area, trunk Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Primary somatosensory area, trunk relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Primary somatosensory area, trunk, layer 6b Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Primary somatosensory area, trunk, layer 6b relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Primary somatosensory area, trunk, layer 6a Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Primary somatosensory area, trunk, layer 6a relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Primary somatosensory area, trunk, layer 2/3 Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Primary somatosensory area, trunk, layer 2/3 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Primary somatosensory area, trunk, layer 1 Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Primary somatosensory area, trunk, layer 1 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Primary somatosensory area, trunk, layer 4 Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Primary somatosensory area, trunk, layer 4 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Primary somatosensory area, trunk, layer 5 Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Primary somatosensory area, trunk, layer 5 relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

trunk Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term trunk in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

ventral trunk neural crest cell migration Gene Set

From GO Biological Process Annotations 2015

genes participating in the ventral trunk neural crest cell migration biological process from the curated GO Biological Process Annotations 2015 dataset.

trunk neural crest cell migration Gene Set

From GO Biological Process Annotations 2015

genes participating in the trunk neural crest cell migration biological process from the curated GO Biological Process Annotations 2015 dataset.

childhood-onset short-trunk short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the childhood-onset short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neonatal short-trunk short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the neonatal short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

disproportionate short-trunk short stature Gene Set

From HPO Gene-Disease Associations

genes associated with the disproportionate short-trunk short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

muscular hypotonia of the trunk Gene Set

From HPO Gene-Disease Associations

genes associated with the muscular hypotonia of the trunk phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia cutis congenita on trunk or limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia cutis congenita on trunk or limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Sec23/Sec24, trunk domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sec23/Sec24, trunk domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal trunk neural crest cell migration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal trunk neural crest cell migration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal brachiocephalic trunk morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal brachiocephalic trunk morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal pulmonary trunk morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal pulmonary trunk morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

dilated pulmonary trunk Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the dilated pulmonary trunk phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

supravalvar pulmonary trunk stenosis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the supravalvar pulmonary trunk stenosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pulmonary trunk hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pulmonary trunk hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent pulmonary trunk Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent pulmonary trunk phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal ureteric bud trunk morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal ureteric bud trunk morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

trunk curl Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the trunk curl phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

trunk Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue trunk from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

trunk Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue trunk in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.

nerve trunk Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue nerve trunk in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

trunk Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue trunk in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

trunk kidney Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue trunk kidney in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Shortened Trunk Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Shortened Trunk in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Childhood-Onset Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Childhood-Onset Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Muscular Hypotonia Of The Trunk Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Muscular Hypotonia Of The Trunk in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Aplasia Cutis Congenita On Trunk Or Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Aplasia Cutis Congenita On Trunk Or Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Disproportionate Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Disproportionate Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Prominent Veins On Trunk Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Prominent Veins On Trunk in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Neonatal Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Neonatal Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infancy Onset Short-Trunk Short Stature Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infancy Onset Short-Trunk Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

abnormal pulmonary trunk morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal pulmonary trunk morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

supravalvar pulmonary trunk stenosis Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the supravalvar pulmonary trunk stenosis phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent pulmonary trunk Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent pulmonary trunk phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal brachiocephalic trunk morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal brachiocephalic trunk morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

trunk curl Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the trunk curl phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

pulmonary trunk hypoplasia Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the pulmonary trunk hypoplasia phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal ureteric bud trunk morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal ureteric bud trunk morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

dilated pulmonary trunk Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the dilated pulmonary trunk phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal trunk neural crest cell migration Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal trunk neural crest cell migration phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent brachiocephalic trunk Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent brachiocephalic trunk phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

left sided brachiocephalic trunk Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the left sided brachiocephalic trunk phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

trunk curl Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the trunk curl phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Trunk Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores 2025

proteins highly expressed in the tissue Trunk from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.

Trunk Gene Set

From TISSUES Experimental Tissue Protein Expression Evidence Scores 2025

proteins highly expressed in the tissue Trunk in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.

Trunk Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Trunk in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Nerve trunk Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Nerve trunk in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Trunk kidney Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Trunk kidney in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Trunk fat mass Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Trunk fat mass phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Body fat distribution (trunk fat ratio) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Body fat distribution (trunk fat ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

proximal chromosome 9p to q and distal chromosome 9q Gene Set

From GAD Gene-Disease Associations

genes associated with the disease proximal chromosome 9p to q and distal chromosome 9q in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hereditary motor and sensory neuropathy, proximal type Gene Set

From OMIM Gene-Disease Associations

genes associated with the hereditary motor and sensory neuropathy, proximal type phenotype from the curated OMIM Gene-Disease Associations dataset.

Proximal Tibial And Fibular Fusion Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Tibial And Fibular Fusion in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) pathway from the Reactome Pathways 2024 dataset.

Gastric adenocarcinoma and proximal polyposis of the stomach Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Gastric adenocarcinoma and proximal polyposis of the stomach phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways 2014

proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset.

Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Skin/hair/eye pigmentation, variation in, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skin/hair/eye pigmentation, variation in, 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skin/hair/eye pigmentation, variation in, 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pigmentation Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pigmentation Disorders from the curated CTD Gene-Disease Associations dataset.

Skin Pigmentation Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Skin Pigmentation in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

pigmentation disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease pigmentation disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

pigmentation disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease pigmentation disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

conjunctival pigmentation Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease conjunctival pigmentation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

human pigmentation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease human pigmentation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pigmentation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pigmentation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

exfoliation syndrome; glaucoma, open-angle; pigmentation disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease exfoliation syndrome; glaucoma, open-angle; pigmentation disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

melanoma; pigmentation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease melanoma; pigmentation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

skin pigmentation Gene Set

From GAD Gene-Disease Associations

genes associated with the disease skin pigmentation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hemochromatosis; iron overload; pigmentation disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hemochromatosis; iron overload; pigmentation disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pigmentation Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term pigmentation in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

regulation of eye pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of eye pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of eye pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of eye pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of eye pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of eye pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

eye pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the eye pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

cellular pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the cellular pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

regulation of developmental pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

negative regulation of developmental pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the negative regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

pigment metabolic process involved in pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the pigment metabolic process involved in pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

pigment metabolic process involved in developmental pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the pigment metabolic process involved in developmental pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

developmental pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the developmental pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

positive regulation of developmental pigmentation Gene Set

From GO Biological Process Annotations 2015

genes participating in the positive regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2015 dataset.

Skin pigmentation Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Skin pigmentation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

abnormal iris pigmentation Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormal iris pigmentation phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of hair pigmentation Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of hair pigmentation phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of skin pigmentation Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of skin pigmentation phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

reticulated skin pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the reticulated skin pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent pigmentation of chest Gene Set

From HPO Gene-Disease Associations

genes associated with the absent pigmentation of chest phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fine, reticulate skin pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the fine, reticulate skin pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

rarefaction of retinal pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the rarefaction of retinal pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

blotching pigmentation of the skin Gene Set

From HPO Gene-Disease Associations

genes associated with the blotching pigmentation of the skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

peripheral retinal pigmentation abnormalities Gene Set

From HPO Gene-Disease Associations

genes associated with the peripheral retinal pigmentation abnormalities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal pigmentation of the oral mucosa Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal pigmentation of the oral mucosa phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pigmentation of the sclera Gene Set

From HPO Gene-Disease Associations

genes associated with the pigmentation of the sclera phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

decreased retinal pigmentation with dispersion Gene Set

From HPO Gene-Disease Associations

genes associated with the decreased retinal pigmentation with dispersion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of hair pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of hair pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pigmentation anomalies of sun-exposed skin Gene Set

From HPO Gene-Disease Associations

genes associated with the pigmentation anomalies of sun-exposed skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal retinal pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal retinal pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of skin pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of skin pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent pigmentation of the ventral chest Gene Set

From HPO Gene-Disease Associations

genes associated with the absent pigmentation of the ventral chest phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of macular pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of macular pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent skin pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the absent skin pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal iris pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal iris pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Pigmentation Disorders Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Pigmentation Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

abnormal hind foot hair pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hind foot hair pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased ear pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased ear pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal ear pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal ear pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal otic pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal otic pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal extracutaneous pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal extracutaneous pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent eye pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent eye pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal foot pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal foot pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal epidermal pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal epidermal pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal digit pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal digit pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal agouti pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal agouti pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal coat/hair pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal coat/hair pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal dermal pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal dermal pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal iris pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal eye pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal eye pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal ventral coat pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal ventral coat pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal tail pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal tail pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

irregular coat pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the irregular coat pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased skin pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased skin pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal ciliary body pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal ciliary body pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal tail hair pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal tail hair pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal skin pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal skin pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinal pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal pinna hair pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal pinna hair pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased ear pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased ear pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal choroid pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal choroid pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pigmentation phenotype Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pigmentation phenotype phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased tail pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased tail pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal harderian gland pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal harderian gland pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent coat pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent coat pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal iris stromal pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris stromal pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased tail pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased tail pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent skin pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent skin pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased eye pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased eye pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased foot pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased foot pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

[skin/hair/eye pigmentation 6, blond/brown hair] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 6, blond/brown hair] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 3, blue/green eyes] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 3, blue/green eyes] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation, variation in, 8] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation, variation in, 8] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 3, light/dark/freckling skin] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 3, light/dark/freckling skin] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 9, dark/light hair] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 9, dark/light hair] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 10, blond/brown hair] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 10, blond/brown hair] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 6, blue/green eyes] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 6, blue/green eyes] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 5, black/nonblack hair] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 5, black/nonblack hair] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 1, blue/nonblue eyes] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 1, blue/nonblue eyes] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 2, red hair/fair skin] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 2, red hair/fair skin] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 7, blond/brown hair] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 7, blond/brown hair] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 2, blond hair/fair skin] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 2, blond hair/fair skin] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 5, dark/fair skin] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 5, dark/fair skin] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation, variation in, 11 (melanesian blond hair)] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation, variation in, 11 (melanesian blond hair)] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 4, fair/dark skin] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 4, fair/dark skin] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 5, dark/light eyes] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 5, dark/light eyes] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 9, brown/nonbrown eyes] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 9, brown/nonbrown eyes] phenotype from the curated OMIM Gene-Disease Associations dataset.

[skin/hair/eye pigmentation 1, blond/brown hair] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [skin/hair/eye pigmentation 1, blond/brown hair] phenotype from the curated OMIM Gene-Disease Associations dataset.

Abnormality Of Macular Pigmentation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Abnormality Of Macular Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Skin/Hair/Eye Pigmentation Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Skin/Hair/Eye Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Absent Pigmentation Of The Ventral Chest Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Absent Pigmentation Of The Ventral Chest in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Abnormal Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormal Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormality Of Retinal Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormality Of Retinal Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Bone Spicule Pigmentation Of The Retina Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Bone Spicule Pigmentation Of The Retina in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormality Of Fundus Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormality Of Fundus Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Skin/Hair/Eye Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Skin/Hair/Eye Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Skin Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Skin Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormality Of Chorioretinal Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormality Of Chorioretinal Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Conjunctival Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Conjunctival Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Reticulated Skin Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Reticulated Skin Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Blotching Pigmentation Of The Skin Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Blotching Pigmentation Of The Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Pigmentation Anomalies Of Sun-Exposed Skin Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Pigmentation Anomalies Of Sun-Exposed Skin in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Pigmentation Of The Sclera Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Pigmentation Of The Sclera in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormality Of Hair Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormality Of Hair Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Reticulate Pigmentation Of Oral Mucosa Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Reticulate Pigmentation Of Oral Mucosa in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormal Iris Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormal Iris Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Generalized Reticulate Brown Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Generalized Reticulate Brown Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Tongue Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Tongue Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormal Pigmentation Of The Oral Mucosa Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormal Pigmentation Of The Oral Mucosa in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Mucosal Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Mucosal Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Fine, Reticulate Skin Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Fine, Reticulate Skin Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Absent Skin Pigmentation Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Absent Skin Pigmentation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

negative regulation of developmental pigmentation Gene Set

From GO Biological Process Annotations 2023

genes participating in the negative regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of developmental pigmentation Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of eye pigmentation Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of eye pigmentation biological process from the curated GO Biological Process Annotations 2023 dataset.

positive regulation of developmental pigmentation Gene Set

From GO Biological Process Annotations 2023

genes participating in the positive regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2023 dataset.

regulation of eye pigmentation Gene Set

From GO Biological Process Annotations 2023

genes participating in the regulation of eye pigmentation biological process from the curated GO Biological Process Annotations 2023 dataset.

irregular coat pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the irregular coat pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent coat pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent coat pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal eye pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal eye pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased skin pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased skin pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal ear pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal ear pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal coat/hair pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal coat/hair pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased eye pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased eye pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal choroid pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal choroid pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal digit pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal digit pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal skin pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal skin pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal foot pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal foot pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal iris pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal iris pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent skin pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent skin pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased ear pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased ear pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased foot pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased foot pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal retina pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal retina pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased forehead pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased forehead pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal ventral coat pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal ventral coat pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased tail pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased tail pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased ear pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased ear pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal ciliary body pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal ciliary body pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased foot pad pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased foot pad pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal epidermal pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal epidermal pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased tail pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased tail pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal Harderian gland pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal Harderian gland pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal iris stromal pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal iris stromal pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal pinna hair pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal pinna hair pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal extracutaneous pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal extracutaneous pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal tail pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal tail pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent eye pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent eye pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal pigmentation pattern Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal pigmentation pattern phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

decreased digit pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the decreased digit pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal dermal pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal dermal pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal tail hair pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal tail hair pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal hind foot hair pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal hind foot hair pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal agouti pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal agouti pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

increased skin pigmentation Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the increased skin pigmentation phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

delayed skin pigmentation appearance Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the delayed skin pigmentation appearance phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

variegated eye pigmentation pattern Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the variegated eye pigmentation pattern phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal coat/hair pigmentation Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal coat/hair pigmentation phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

abnormal iris pigmentation Gene Set

From IMPC Knockout Mouse Phenotypes

gene knockouts causing the abnormal iris pigmentation phenotype in mic from the IMPC Knockout Mouse Phenotypes dataset.

Regulation of MITF-M-dependent genes involved in pigmentation Gene Set

From Reactome Pathways 2024

proteins participating in the Regulation of MITF-M-dependent genes involved in pigmentation pathway from the Reactome Pathways 2024 dataset.

negative regulation of developmental pigmentation Gene Set

From GO Biological Process Annotations 2025

genes participating in the negative regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of developmental pigmentation Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of eye pigmentation Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of eye pigmentation biological process from the curated GO Biological Process Annotations 2025 dataset.

positive regulation of developmental pigmentation Gene Set

From GO Biological Process Annotations 2025

genes participating in the positive regulation of developmental pigmentation biological process from the curated GO Biological Process Annotations 2025 dataset.

regulation of eye pigmentation Gene Set

From GO Biological Process Annotations 2025

genes participating in the regulation of eye pigmentation biological process from the curated GO Biological Process Annotations 2025 dataset.

Pigmentation disease Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores 2025

genes involed in the disease Pigmentation disease from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Pigmentation disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Pigmentation disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Conjunctival pigmentation Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Conjunctival pigmentation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

SKIN/HAIR/EYE PIGMENTATION Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the SKIN/HAIR/EYE PIGMENTATION phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Abnormality of retinal pigmentation Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Abnormality of retinal pigmentation phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Skin pigmentation Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Skin pigmentation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Facial pigmentation Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Facial pigmentation phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Facial pigmentation measurement (UV light) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Facial pigmentation measurement (UV light) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Facial pigmentation measurement (polar light) Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Facial pigmentation measurement (polar light) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Skin pigmentation traits Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Skin pigmentation traits phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Symphalangism, proximal, 1b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Symphalangism, proximal, 1b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

vulvar proximal-type epithelioid sarcoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease vulvar proximal-type epithelioid sarcoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

H3K4me3_epithelial cell of proximal tubule_hg19_2 Gene Set

From ENCODE Histone Modification Site Profiles

genes with high histone modification abundance in the H3K4me3_epithelial cell of proximal tubule_hg19_2 histone modification site profile from the ENCODE Histone Modification Site Profiles dataset.

H3K4me3_epithelial cell of proximal tubule_hg19_1 Gene Set

From ENCODE Histone Modification Site Profiles

genes with high histone modification abundance in the H3K4me3_epithelial cell of proximal tubule_hg19_1 histone modification site profile from the ENCODE Histone Modification Site Profiles dataset.

CTCF_epithelial cell of proximal tubule_hg19_1 Gene Set

From ENCODE Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the CTCF_epithelial cell of proximal tubule_hg19_1 transcription factor binding site profile from the ENCODE Transcription Factor Binding Site Profiles dataset.

CTCF_epithelial cell of proximal tubule_hg19_2 Gene Set

From ENCODE Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the CTCF_epithelial cell of proximal tubule_hg19_2 transcription factor binding site profile from the ENCODE Transcription Factor Binding Site Profiles dataset.

fractures, bone; hip fractures; proximal humeral fractures; shoulder fractures; wrist injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fractures, bone; hip fractures; proximal humeral fractures; shoulder fractures; wrist injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

proximal Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term proximal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

LMX1B_KO_GDS3320_57_mouse_embryonic (e11.5) proximal hindlimb bud tissues Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the LMX1B_KO_GDS3320_57_mouse_embryonic (e11.5) proximal hindlimb bud tissues gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

proximal/distal pattern formation involved in nephron development Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal/distal pattern formation involved in nephron development biological process from the curated GO Biological Process Annotations 2015 dataset.

proximal convoluted tubule segment 2 development Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal convoluted tubule segment 2 development biological process from the curated GO Biological Process Annotations 2015 dataset.

proximal/distal pattern formation involved in metanephric nephron development Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal/distal pattern formation involved in metanephric nephron development biological process from the curated GO Biological Process Annotations 2015 dataset.

proximal tubule development Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal tubule development biological process from the curated GO Biological Process Annotations 2015 dataset.

metanephric proximal convoluted tubule segment 2 development Gene Set

From GO Biological Process Annotations 2015

genes participating in the metanephric proximal convoluted tubule segment 2 development biological process from the curated GO Biological Process Annotations 2015 dataset.

lung proximal/distal axis specification Gene Set

From GO Biological Process Annotations 2015

genes participating in the lung proximal/distal axis specification biological process from the curated GO Biological Process Annotations 2015 dataset.

polarity specification of proximal/distal axis Gene Set

From GO Biological Process Annotations 2015

genes participating in the polarity specification of proximal/distal axis biological process from the curated GO Biological Process Annotations 2015 dataset.

proximal/distal axis specification Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal/distal axis specification biological process from the curated GO Biological Process Annotations 2015 dataset.

proximal straight tubule development Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal straight tubule development biological process from the curated GO Biological Process Annotations 2015 dataset.

metanephric proximal tubule development Gene Set

From GO Biological Process Annotations 2015

genes participating in the metanephric proximal tubule development biological process from the curated GO Biological Process Annotations 2015 dataset.

metanephric proximal convoluted tubule development Gene Set

From GO Biological Process Annotations 2015

genes participating in the metanephric proximal convoluted tubule development biological process from the curated GO Biological Process Annotations 2015 dataset.

proximal/distal pattern formation Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal/distal pattern formation biological process from the curated GO Biological Process Annotations 2015 dataset.

proximal convoluted tubule development Gene Set

From GO Biological Process Annotations 2015

genes participating in the proximal convoluted tubule development biological process from the curated GO Biological Process Annotations 2015 dataset.

metanephric proximal straight tubule development Gene Set

From GO Biological Process Annotations 2015

genes participating in the metanephric proximal straight tubule development biological process from the curated GO Biological Process Annotations 2015 dataset.

core promoter proximal region dna binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the core promoter proximal region dna binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations 2015

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in positive regulation of transcription Gene Set

From GO Molecular Function Annotations 2015

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in positive regulation of transcription molecular function from the curated GO Molecular Function Annotations 2015 dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in negative regulation of transcription Gene Set

From GO Molecular Function Annotations 2015

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in negative regulation of transcription molecular function from the curated GO Molecular Function Annotations 2015 dataset.

core promoter proximal region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations 2015

genes performing the core promoter proximal region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

proximal tapering of metacarpals Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal tapering of metacarpals phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

small proximal tibial epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the small proximal tibial epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal amyotrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal amyotrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlarged epiphysis of the proximal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the enlarged epiphysis of the proximal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlarged epiphyses of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the enlarged epiphyses of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short metacarpals with rounded proximal ends Gene Set

From HPO Gene-Disease Associations

genes associated with the short metacarpals with rounded proximal ends phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

club-shaped proximal femur Gene Set

From HPO Gene-Disease Associations

genes associated with the club-shaped proximal femur phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

slender proximal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the slender proximal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the proximal tibial epiphysis Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the proximal tibial epiphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped proximal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped proximal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the proximal phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the proximal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

late-onset proximal muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the late-onset proximal muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal fibular overgrowth Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal fibular overgrowth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

multicentric ossification of proximal femoral epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the multicentric ossification of proximal femoral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

multicentric ossification of proximal humeral epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the multicentric ossification of proximal humeral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal renal tubular acidosis Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal renal tubular acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

long proximal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the long proximal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal placement of thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal placement of thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

widened proximal tibial metaphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the widened proximal tibial metaphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypersegmentation of proximal phalanx of second finger Gene Set

From HPO Gene-Disease Associations

genes associated with the hypersegmentation of proximal phalanx of second finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

shortening of all proximal phalanges of the fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the shortening of all proximal phalanges of the fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

complete duplication of proximal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the complete duplication of proximal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular epiphyses of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular epiphyses of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal tibial hypopolasia Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal tibial hypopolasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of proximal fibula Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of proximal fibula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pointed proximal second through fifth metacarpals Gene Set

From HPO Gene-Disease Associations

genes associated with the pointed proximal second through fifth metacarpals phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of the proximal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the proximal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

limited mobility of proximal interphalangeal joint Gene Set

From HPO Gene-Disease Associations

genes associated with the limited mobility of proximal interphalangeal joint phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent proximal phalanx of thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the absent proximal phalanx of thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short proximal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the short proximal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent proximal finger flexion creases Gene Set

From HPO Gene-Disease Associations

genes associated with the absent proximal finger flexion creases phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal femoral epiphysiolysis Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal femoral epiphysiolysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the proximal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the proximal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the proximal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the proximal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

non-acidotic proximal tubulopathy Gene Set

From HPO Gene-Disease Associations

genes associated with the non-acidotic proximal tubulopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal/middle symphalangism of 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal/middle symphalangism of 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

stippled calcification proximal humeral epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the stippled calcification proximal humeral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal femoral metaphyseal abnormality Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal femoral metaphyseal abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

tombstone-shaped proximal phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the tombstone-shaped proximal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal symphalangism Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal symphalangism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal upper limb amyotrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal upper limb amyotrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphyses of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphyses of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular epiphysis of the proximal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular epiphysis of the proximal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

symphalangism affecting the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the symphalangism affecting the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular epiphysis of the proximal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular epiphysis of the proximal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphysis of the proximal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphysis of the proximal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the proximal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the proximal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal muscle weakness in lower limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal muscle weakness in lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal radio-ulnar synostosis Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal radio-ulnar synostosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short proximal phalanx of thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the short proximal phalanx of thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

metaphyseal cupping of proximal phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the metaphyseal cupping of proximal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

progressive proximal muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the progressive proximal muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

irregular proximal tibial epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the irregular proximal tibial epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the proximal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the proximal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal femoral metaphyseal irregularity Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal femoral metaphyseal irregularity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of the proximal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the proximal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal tubulopathy Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal tubulopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short proximal phalanx of hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the short proximal phalanx of hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

swelling of proximal interphalangeal joints Gene Set

From HPO Gene-Disease Associations

genes associated with the swelling of proximal interphalangeal joints phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cone-shaped epiphyses of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the cone-shaped epiphyses of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thin proximal phalanges with broad epiphyses of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the thin proximal phalanges with broad epiphyses of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of proximal radius Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of proximal radius phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

symphalangism affecting the proximal phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the symphalangism affecting the proximal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

contracture of the proximal interphalangeal joint of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the contracture of the proximal interphalangeal joint of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal muscle weakness in upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal muscle weakness in upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlargement of the proximal femoral epiphysis Gene Set

From HPO Gene-Disease Associations

genes associated with the enlargement of the proximal femoral epiphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped proximal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped proximal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypersegmentation of proximal phalanx of third finger Gene Set

From HPO Gene-Disease Associations

genes associated with the hypersegmentation of proximal phalanx of third finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlarged epiphysis of the proximal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the enlarged epiphysis of the proximal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the proximal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the proximal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal lower limb amyotrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal lower limb amyotrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphysis of the proximal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphysis of the proximal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlarged proximal interphalangeal joints Gene Set

From HPO Gene-Disease Associations

genes associated with the enlarged proximal interphalangeal joints phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the proximal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the proximal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pseudoepiphyses of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the pseudoepiphyses of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal symphalangism (hands) Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal symphalangism (hands) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dilated proximal convoluted tubules Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the dilated proximal convoluted tubules phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent proximal rib Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent proximal rib phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

proximal convoluted tubule brush border loss Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the proximal convoluted tubule brush border loss phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal proximal convoluted tubule brush border morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal proximal convoluted tubule brush border morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal proximal-distal axis patterning Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal proximal-distal axis patterning phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal proximal convoluted tubule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal proximal convoluted tubule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent proximal convoluted tubule brush border Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent proximal convoluted tubule brush border phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

symphalangism, proximal, 1b Gene Set

From OMIM Gene-Disease Associations

genes associated with the symphalangism, proximal, 1b phenotype from the curated OMIM Gene-Disease Associations dataset.

symphalangism, proximal Gene Set

From OMIM Gene-Disease Associations

genes associated with the symphalangism, proximal phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, proximal, with early respiratory muscle involvement Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, proximal, with early respiratory muscle involvement phenotype from the curated OMIM Gene-Disease Associations dataset.

renal tubular acidosis, proximal, with ocular abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular acidosis, proximal, with ocular abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

renal proximal tubule Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue renal proximal tubule from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

renal proximal tubule Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue renal proximal tubule in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

proximal deep inguinal lymph node Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue proximal deep inguinal lymph node in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Dissection Of Proximal Aorta Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Dissection Of Proximal Aorta in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hmn (Hereditary Motor Neuropathy) Proximal Type I Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hmn (Hereditary Motor Neuropathy) Proximal Type I in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Proximal Spinal Muscular Atrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Proximal Spinal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Proximal Amyotrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Proximal Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Asymmetric Diabetic Proximal Motor Neuropathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Asymmetric Diabetic Proximal Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symmetric Diabetic Proximal Motor Neuropathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Symmetric Diabetic Proximal Motor Neuropathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Proximal Myopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Proximal Myopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Proximal-Type Epithelioid Sarcoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Proximal-Type Epithelioid Sarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Proximal Myopathy With Focal Depletion Of Mitochondria Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Proximal Myopathy With Focal Depletion Of Mitochondria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Complete Duplication Of Proximal Phalanx Of The Thumb Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Complete Duplication Of Proximal Phalanx Of The Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Proximal Symphalangism Of Hands Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Proximal Symphalangism Of Hands in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Proximal Femoral Metaphyseal Abnormality Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Proximal Femoral Metaphyseal Abnormality in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Irregular Proximal Tibial Epiphyses Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Irregular Proximal Tibial Epiphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Small Proximal Tibial Epiphyses Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Small Proximal Tibial Epiphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Shortening Of All Proximal Phalanges Of The Fingers Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Shortening Of All Proximal Phalanges Of The Fingers in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypersegmentation Of Proximal Phalanx Of Second Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypersegmentation Of Proximal Phalanx Of Second Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypersegmentation Of Proximal Phalanx Of Third Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypersegmentation Of Proximal Phalanx Of Third Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Triangular Epiphysis Of The Proximal Phalanx Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Triangular Epiphysis Of The Proximal Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Triangular Shaped Proximal Phalanx Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Triangular Shaped Proximal Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Thin Proximal Phalanges With Broad Epiphyses Of The Hand Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Thin Proximal Phalanges With Broad Epiphyses Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Long Proximal Phalanx Of Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Long Proximal Phalanx Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Slender Proximal Phalanx Of Finger Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Slender Proximal Phalanx Of Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Non-Acidotic Proximal Tubulopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Non-Acidotic Proximal Tubulopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Duplication Of The Proximal Phalanx Of The Hallux Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Duplication Of The Proximal Phalanx Of The Hallux in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Progressive Proximal Myelopathic Muscular Atrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Progressive Proximal Myelopathic Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Progressive Proximal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Progressive Proximal Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Fatiguable Weakness Of Proximal Limb Muscles Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Fatiguable Weakness Of Proximal Limb Muscles in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Flexion Contracture Of Proximal Interphalangeal Joint Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Flexion Contracture Of Proximal Interphalangeal Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Metacarpals With Rounded Proximal Ends Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Metacarpals With Rounded Proximal Ends in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Tubulopathy Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Tubulopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Placement Of Thumb Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Placement Of Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Muscle Weakness In Lower Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Muscle Weakness In Lower Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Muscle Weakness In Upper Limbs Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Muscle Weakness In Upper Limbs in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Delayed Proximal Femoral Epiphyseal Ossification Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Delayed Proximal Femoral Epiphyseal Ossification in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal/Middle Symphalangism Of 5Th Finger Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal/Middle Symphalangism Of 5Th Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Aplasia Of The Proximal Phalanges Of The Hand Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Aplasia Of The Proximal Phalanges Of The Hand in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Short Proximal Phalanx Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Short Proximal Phalanx in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Widened Proximal Tibial Metaphyses Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Widened Proximal Tibial Metaphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Late-Onset Proximal Muscle Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Late-Onset Proximal Muscle Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Fibular Overgrowth Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Fibular Overgrowth in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Lower Limb Amyotrophy Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Lower Limb Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Enlargement Of The Proximal Femoral Epiphysis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Enlargement Of The Proximal Femoral Epiphysis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Absent Proximal Finger Flexion Creases Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Absent Proximal Finger Flexion Creases in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Femoral Metaphyseal Irregularity Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Femoral Metaphyseal Irregularity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Weakness Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Weakness in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Partial Duplication Of The Proximal Phalanx Of The 3Rd Finger Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Partial Duplication Of The Proximal Phalanx Of The 3Rd Finger in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Radio-Ulnar Synostosis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Radio-Ulnar Synostosis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Metaphyseal Cupping Of Proximal Phalanges Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Metaphyseal Cupping Of Proximal Phalanges in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Club-Shaped Proximal Femur Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Club-Shaped Proximal Femur in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Multicentric Ossification Of Proximal Femoral Epiphyses Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Multicentric Ossification Of Proximal Femoral Epiphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Multicentric Ossification Of Proximal Humeral Epiphyses Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Multicentric Ossification Of Proximal Humeral Epiphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Upper Limb Amyotrophy Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Upper Limb Amyotrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Absent Proximal Phalanx Of Thumb Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Absent Proximal Phalanx Of Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Tombstone-Shaped Proximal Phalanges Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Tombstone-Shaped Proximal Phalanges in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Pointed Proximal Second Through Fifth Metacarpals Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Pointed Proximal Second Through Fifth Metacarpals in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Stippled Calcification Proximal Humeral Epiphyses Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Stippled Calcification Proximal Humeral Epiphyses in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Tapering Of Metacarpals Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Tapering Of Metacarpals in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Enlarged Proximal Interphalangeal Joints Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Enlarged Proximal Interphalangeal Joints in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Tibial Hypoplasia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Tibial Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Proximal Upper Limb Muscle Hypertrophy Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Proximal Upper Limb Muscle Hypertrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Abnormality Of The Proximal Phalanx Of The Thumb Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Abnormality Of The Proximal Phalanx Of The Thumb in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Broad Proximal Phalanx Of The Hallux Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Broad Proximal Phalanx Of The Hallux in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Swelling Of Proximal Interphalangeal Joints Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Swelling Of Proximal Interphalangeal Joints in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Wide Proximal Femoral Metaphysis Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Wide Proximal Femoral Metaphysis in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Limited Mobility Of Proximal Interphalangeal Joint Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Limited Mobility Of Proximal Interphalangeal Joint in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

proximal/distal pattern formation Gene Set

From GO Biological Process Annotations 2023

genes participating in the proximal/distal pattern formation biological process from the curated GO Biological Process Annotations 2023 dataset.

proximal/distal axis specification Gene Set

From GO Biological Process Annotations 2023

genes participating in the proximal/distal axis specification biological process from the curated GO Biological Process Annotations 2023 dataset.

metanephric proximal tubule development Gene Set

From GO Biological Process Annotations 2023

genes participating in the metanephric proximal tubule development biological process from the curated GO Biological Process Annotations 2023 dataset.

proximal tubule development Gene Set

From GO Biological Process Annotations 2023

genes participating in the proximal tubule development biological process from the curated GO Biological Process Annotations 2023 dataset.

proximal dendrite Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the proximal dendrite cellular component from the curated GO Cellular Component Annotations 2023 dataset.

proximal neuron projection Gene Set

From GO Cellular Component Annotations 2023

proteins localized to the proximal neuron projection cellular component from the curated GO Cellular Component Annotations 2023 dataset.

abnormal proximal convoluted tubule morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal proximal convoluted tubule morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent proximal convoluted tubule brush border Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent proximal convoluted tubule brush border phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

absent proximal rib Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the absent proximal rib phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

dilated proximal convoluted tubule Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the dilated proximal convoluted tubule phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal proximal-distal axis patterning Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal proximal-distal axis patterning phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

proximal convoluted tubule brush border loss Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the proximal convoluted tubule brush border loss phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

abnormal proximal convoluted tubule brush border morphology Gene Set

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal proximal convoluted tubule brush border morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

Human - Lung v1 - L2 - Proximal Basal Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Lung v1 - L2 - Proximal Basal cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Lung v1 - L2 - Proximal Ciliated Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Lung v1 - L2 - Proximal Ciliated cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Kidney - L1 - Proximal Tubule Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L1 - Proximal Tubule cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Kidney - L2 - Proximal Tubule Epithelial Segment 1 Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L2 - Proximal Tubule Epithelial Segment 1 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Kidney - L2 - Proximal Tubule Epithelial Segment 2 Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L2 - Proximal Tubule Epithelial Segment 2 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Kidney - L2 - Proximal Tubule Epithelial Segment 3 Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L2 - Proximal Tubule Epithelial Segment 3 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Kidney - L3 - Proximal Tubule Epithelial Segment 1 Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L3 - Proximal Tubule Epithelial Segment 1 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Kidney - L3 - Proximal Tubule Epithelial Segment 2 Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L3 - Proximal Tubule Epithelial Segment 2 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Human - Kidney - L3 - Proximal Tubule Epithelial Segment 3 Gene Set

From HuBMAP Azimuth Cell Type Annotations

genes associated with the Human - Kidney - L3 - Proximal Tubule Epithelial Segment 3 cell type from the HuBMAP Azimuth Cell Type Annotations dataset.

Proximal limb bone cell_Bone_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal limb bone cell_Bone_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal limb bud cell_Limb bud_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal limb bud cell_Limb bud_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Enterocyte proximal cell_Intestine_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Enterocyte proximal cell_Intestine_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal cell_Epithelium_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal cell_Epithelium_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal stem cell_Epithelium_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal stem cell_Epithelium_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal tubular cell_Kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal tubular cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal tubule cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal tubule cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Early proximal tubule cell_Fetal kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Early proximal tubule cell_Fetal kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal segment cell_Fetal kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal segment cell_Fetal kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

General proximal cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the General proximal cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

S3 proximal cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the S3 proximal cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

S2 proximal cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the S2 proximal cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

S1 proximal cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the S1 proximal cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal tubular cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal tubular cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal tubule (PT) cell_Kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal tubule (PT) cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal straight tubular cell_Kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal straight tubular cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal convoluted tubular cell_Kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal convoluted tubular cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal tubule cell_Kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal tubule cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal convoluted tubular cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal convoluted tubular cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal straight tubular cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal straight tubular cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal tubule-S1 cell_Kidney_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal tubule-S1 cell_Kidney_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

S3 proximal tubule cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the S3 proximal tubule cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

S1/S2 proximal tubule cell_Kidney_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the S1/S2 proximal tubule cell_Kidney_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal cell_Blood vessel_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal cell_Blood vessel_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal tubular cell_Liver_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal tubular cell_Liver_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal epithelial cell_Lung_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal epithelial cell_Lung_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal cell_Prostate_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal cell_Prostate_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal luminal cell_Prostate_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal luminal cell_Prostate_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal S2 cell_Epithelium_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal S2 cell_Epithelium_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal tubular cell_Epithelium_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal tubular cell_Epithelium_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal S3 cell_Epithelium_Mouse Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal S3 cell_Epithelium_Mouse cell type from the CellMarker Gene-Cell Type Associations dataset.

Proximal tubular cell_Urine_Human Gene Set

From CellMarker Gene-Cell Type Associations

genes associated with the Proximal tubular cell_Urine_Human cell type from the CellMarker Gene-Cell Type Associations dataset.

Regucalcin in proximal tubule epithelial kidney cells Gene Set

From WikiPathways Pathways 2024

proteins participating in the Regucalcin in proximal tubule epithelial kidney cells pathway from the WikiPathways Pathways 2024 dataset.

Proximal tubule transport Gene Set

From WikiPathways Pathways 2024

proteins participating in the Proximal tubule transport pathway from the WikiPathways Pathways 2024 dataset.

16p11 2 proximal deletion syndrome Gene Set

From WikiPathways Pathways 2024

proteins participating in the 16p11 2 proximal deletion syndrome pathway from the WikiPathways Pathways 2024 dataset.

proximal/distal pattern formation Gene Set

From GO Biological Process Annotations 2025

genes participating in the proximal/distal pattern formation biological process from the curated GO Biological Process Annotations 2025 dataset.

proximal/distal axis specification Gene Set

From GO Biological Process Annotations 2025

genes participating in the proximal/distal axis specification biological process from the curated GO Biological Process Annotations 2025 dataset.

metanephric proximal tubule development Gene Set

From GO Biological Process Annotations 2025

genes participating in the metanephric proximal tubule development biological process from the curated GO Biological Process Annotations 2025 dataset.

proximal tubule development Gene Set

From GO Biological Process Annotations 2025

genes participating in the proximal tubule development biological process from the curated GO Biological Process Annotations 2025 dataset.

proximal dendrite Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the proximal dendrite cellular component from the curated GO Cellular Component Annotations 2025 dataset.

proximal neuron projection Gene Set

From GO Cellular Component Annotations 2025

proteins localized to the proximal neuron projection cellular component from the curated GO Cellular Component Annotations 2025 dataset.

Proximal symphalangism Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Proximal symphalangism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Vulvar proximal-type epithelioid sarcoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Vulvar proximal-type epithelioid sarcoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Autosomal dominant adult-onset proximal spinal muscular atrophy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Autosomal dominant adult-onset proximal spinal muscular atrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Renal proximal tubule Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores 2025

proteins highly expressed in the tissue Renal proximal tubule from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.

Renal proximal tubule Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Renal proximal tubule in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Renal proximal tubule cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Renal proximal tubule cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Renal proximal tubule epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Renal proximal tubule epithelium in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Renal proximal tubule epithelial cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Renal proximal tubule epithelial cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Renal proximal tubule epithelium cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Renal proximal tubule epithelium cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Proximal deep inguinal lymph node Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025

proteins co-occuring with the tissue Proximal deep inguinal lymph node in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.

Proximal portion of axoneme Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Proximal portion of axoneme cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Proximal dendrite Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Proximal dendrite cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Proximal neuron projection Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores 2025

proteins localized to the Proximal neuron projection cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.

Proximal dendrite Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Proximal dendrite cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Proximal portion of axoneme Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Proximal portion of axoneme cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Photoreceptor proximal connecting cilium Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Photoreceptor proximal connecting cilium cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Apical proximal dendrite Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Apical proximal dendrite cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Basal proximal dendrite Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Basal proximal dendrite cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

Adult-onset proximal spinal muscular atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Adult-onset proximal spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Progressive proximal muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Progressive proximal muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proximal symphalangism Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proximal symphalangism phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proximal spinal muscular atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proximal spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal dominant childhood-onset proximal spinal muscular atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal dominant childhood-onset proximal spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Symphalangism affecting the proximal phalanx of the 4th finger Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Symphalangism affecting the proximal phalanx of the 4th finger phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proximal myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proximal myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Triangular shaped proximal phalanx of the thumb Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Triangular shaped proximal phalanx of the thumb phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proximal muscle weakness Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proximal muscle weakness phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proximal lower limb amyotrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proximal lower limb amyotrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proximal muscle weakness in lower limbs Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proximal muscle weakness in lower limbs phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive proximal renal tubular acidosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive proximal renal tubular acidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proximal amyotrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Proximal amyotrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Proximal colorectal cancer Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Proximal colorectal cancer phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Proximal tubule bicarbonate reclamation Gene Set

From KEGG Pathways 2026

proteins participating in the Proximal tubule bicarbonate reclamation pathway from the KEGG Pathways 2026 dataset.

basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set

From Biocarta Pathways

proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset.

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset.

postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anxiety and hostility and depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

frontotemporal dementia and pick-like 3r and 4r tauopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamins and metabolites in pregnant women and neonates Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

racemase and epimerase activity, acting on amino acids and derivatives Gene Set

From GO Molecular Function Annotations 2015

genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2015

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2015 dataset.

leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset.

microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.

hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways 2014

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways 2014

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways 2014

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways 2014

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways 2014

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways 2014

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset.

Synthesis and interconversion of nucleotide di- and triphosphates Gene Set

From Reactome Pathways 2014

proteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the WikiPathways Pathways 2014 dataset.

SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene Set

From WikiPathways Pathways 2014

proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the WikiPathways Pathways 2014 dataset.

High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease High-Grade B-Cell Lymphoma, With Myc And Bcl2 And/Or Bcl6 Rearrangements in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hypomyelination With Brain Stem And Spinal Cord Involvement And Leg Spasticity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Anal Intraepithelial Neoplasia I And Ii (Ain I And Ii) (Histologically Confirmed) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2023

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2023 dataset.

SRF and miRs in smooth muscle differentiation and proliferation Gene Set

From WikiPathways Pathways 2024

proteins participating in the SRF and miRs in smooth muscle differentiation and proliferation pathway from the WikiPathways Pathways 2024 dataset.

SREBF and miR33 in cholesterol and lipid homeostasis Gene Set

From WikiPathways Pathways 2024

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis pathway from the WikiPathways Pathways 2024 dataset.

RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis Gene Set

From WikiPathways Pathways 2024

proteins participating in the RIOK1 and RIOK2 in EGFR and PI3K mediated tumorigenesis pathway from the WikiPathways Pathways 2024 dataset.

ApoE and miR 146 in inflammation and atherosclerosis Gene Set

From WikiPathways Pathways 2024

proteins participating in the ApoE and miR 146 in inflammation and atherosclerosis pathway from the WikiPathways Pathways 2024 dataset.

Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine Gene Set

From WikiPathways Pathways 2024

proteins participating in the Biosynthesis and regeneration of tetrahydrobiopterin and catabolism of phenylalanine pathway from the WikiPathways Pathways 2024 dataset.

Somatroph axis GH and its relationship to dietary restriction and aging Gene Set

From WikiPathways Pathways 2024

proteins participating in the Somatroph axis GH and its relationship to dietary restriction and aging pathway from the WikiPathways Pathways 2024 dataset.

Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms Gene Set

From WikiPathways Pathways 2024

proteins participating in the Mechanoregulation and pathology of YAP TAZ via Hippo and non Hippo mechanisms pathway from the WikiPathways Pathways 2024 dataset.

GLP 1 from intestine and pancreas and role in glucose homeostasis Gene Set

From WikiPathways Pathways 2024

proteins participating in the GLP 1 from intestine and pancreas and role in glucose homeostasis pathway from the WikiPathways Pathways 2024 dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways 2024

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways 2024 dataset.

Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) Gene Set

From Reactome Pathways 2024

proteins participating in the Biosynthesis of protectin and resolvin conjugates in tissue regeneration (PCTR and RCTR) pathway from the Reactome Pathways 2024 dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways 2024

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways 2024 dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways 2024

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways 2024 dataset.

MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Gene Set

From Reactome Pathways 2024

proteins participating in the MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis pathway from the Reactome Pathways 2024 dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways 2024

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways 2024 dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways 2024

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways 2024 dataset.

PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 Gene Set

From Reactome Pathways 2024

proteins participating in the PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 pathway from the Reactome Pathways 2024 dataset.

Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Gene Set

From Reactome Pathways 2024

proteins participating in the Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks pathway from the Reactome Pathways 2024 dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways 2024

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways 2024 dataset.

Transcriptional and post-translational regulation of MITF-M expression and activity Gene Set

From Reactome Pathways 2024

proteins participating in the Transcriptional and post-translational regulation of MITF-M expression and activity pathway from the Reactome Pathways 2024 dataset.

Transport of bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways 2024

proteins participating in the Transport of bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways 2024 dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways 2024

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways 2024 dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations 2025

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations 2025 dataset.

Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Vertebral anomalies and variable endocrine and T-cell dysfunction in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Vertebral anomalies and variable endocrine and T-cell dysfunction Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Vertebral anomalies and variable endocrine and T-cell dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Regulation of gene expression and signal transduction in immune and stress responses Gene Set

From CM4AI U2OS Cell Map Protein Localization Assemblies

proteins comprising Regulation of gene expression and signal transduction in immune and stress responses assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.

Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Basic cell groups and regions Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

head and face region of M1 Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

telomeres telomerase cellular aging and immortality Gene Set

From Biocarta Pathways

proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset.

mcalpain and friends in cell motility Gene Set

From Biocarta Pathways

proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset.

role of ppar-gamma coactivators in obesity and thermogenesis Gene Set

From Biocarta Pathways

proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset.

il12 and stat4 dependent signaling pathway in th1 development Gene Set

From Biocarta Pathways

proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset.

hypoxia and p53 in the cardiovascular system Gene Set

From Biocarta Pathways

proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset.

lissencephaly gene (lis1) in neuronal migration and development Gene Set

From Biocarta Pathways

proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset.

role of erbb2 in signal transduction and oncology Gene Set

From Biocarta Pathways

proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset.

corticosteroids and cardioprotection Gene Set

From Biocarta Pathways

proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset.

cyclins and cell cycle regulation Gene Set

From Biocarta Pathways

proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset.

mechanism of acetaminophen activity and toxicity Gene Set

From Biocarta Pathways

proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset.

nfat and hypertrophy of the heart Gene Set

From Biocarta Pathways

proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset.

acetylation and deacetylation of rela in nucleus Gene Set

From Biocarta Pathways

proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset.

thrombin signaling and protease-activated receptors Gene Set

From Biocarta Pathways

proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset.

antigen processing and presentation Gene Set

From Biocarta Pathways

proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset.

stathmin and breast cancer resistance to antimicrotubule agents Gene Set

From Biocarta Pathways

proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset.

role of ß-arrestins in the activation and targeting of map kinases Gene Set

From Biocarta Pathways

proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset.

cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene Set

From Biocarta Pathways

proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset.

role of pi3k subunit p85 in regulation of actin organization and cell migration Gene Set

From Biocarta Pathways

proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset.

btg family proteins and cell cycle regulation Gene Set

From Biocarta Pathways

proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset.

control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene Set

From Biocarta Pathways

proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset.

endocytotic role of ndk phosphins and dynamin Gene Set

From Biocarta Pathways

proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset.

regulation of eif-4e and p70s6 kinase Gene Set

From Biocarta Pathways

proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset.

estrogen responsive protein efp controls cell cycle and breast tumors growth Gene Set

From Biocarta Pathways

proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset.

vegf hypoxia and angiogenesis Gene Set

From Biocarta Pathways

proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset.

yaci and bcma stimulation of b cell immune responses Gene Set

From Biocarta Pathways

proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset.

lck and fyn tyrosine kinases in initiation of tcr activation Gene Set

From Biocarta Pathways

proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset.

hiv-1 nef: negative effector of fas and tnf Gene Set

From Biocarta Pathways

proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset.

nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene Set

From Biocarta Pathways

proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset.

ucalpain and friends in cell spread Gene Set

From Biocarta Pathways

proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset.

ionomycin and phorbal ester signaling pathway Gene Set

From Biocarta Pathways

proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset.

carm1 and regulation of the estrogen receptor Gene Set

From Biocarta Pathways

proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset.

phosphoinositides and their downstream targets Gene Set

From Biocarta Pathways

proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset.

akap95 role in mitosis and chromosome dynamics Gene Set

From Biocarta Pathways

proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset.

transcription factor creb and its extracellular signals Gene Set

From Biocarta Pathways

proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset.

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.

the igf-1 receptor and longevity Gene Set

From Biocarta Pathways

proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset.

cdc25 and chk1 regulatory pathway in response to dna damage Gene Set

From Biocarta Pathways

proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset.

human cytomegalovirus and map kinase pathways Gene Set

From Biocarta Pathways

proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset.

influence of ras and rho proteins on g1 to s transition Gene Set

From Biocarta Pathways

proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset.

proteolysis and signaling pathway of notch Gene Set

From Biocarta Pathways

proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset.

apoptotic dna-fragmentation and tissue homeostasis Gene Set

From Biocarta Pathways

proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset.

ion channels and their functional role in vascular endothelium Gene Set

From Biocarta Pathways

proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset.

alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene Set

From Biocarta Pathways

proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset.

fosb gene expression and drug abuse Gene Set

From Biocarta Pathways

proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset.

links between pyk2 and map kinases Gene Set

From Biocarta Pathways

proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset.

opposing roles of aif in apoptosis and cell survival Gene Set

From Biocarta Pathways

proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset.

degradation of the rar and rxr by the proteasome Gene Set

From Biocarta Pathways

proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset.

cadmium induces dna synthesis and proliferation in macrophages Gene Set

From Biocarta Pathways

proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset.

erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene Set

From Biocarta Pathways

proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset.

role of brca1 brca2 and atr in cancer susceptibility Gene Set

From Biocarta Pathways

proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset.

chrebp regulation by carbohydrates and camp Gene Set

From Biocarta Pathways

proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset.

pten dependent cell cycle arrest and apoptosis Gene Set

From Biocarta Pathways

proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset.

induction of apoptosis through dr3 and dr4/5 death receptors Gene Set

From Biocarta Pathways

proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset.

CIITA-18437201-Raji B cells and iDC-human Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

VDR-23401126-LCL-AND-THP1-HUMAN Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

BACH1-22875853-HELA-AND-SCP4-HUMAN Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set

From ChEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

Hypothyroidism, central, and testicular enlargement Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and presenile cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, mental retardation, and seizures Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vater association with macrocephaly and ventriculomegaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal hamartomas nephroblastomatosis and fetal gigantism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microtia, hearing impairment, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ichthyosis, spastic quadriplegia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined d-2- and l-2-hydroxyglutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sinoatrial node dysfunction and deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation with language impairment and autistic features Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warts, hypogammaglobulinemia, infections, and myelokathexis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibular hypoplasia and complex brachydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibular hypoplasia and complex brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, anterior maxillary protrusion, and strabismus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile convulsions and paroxysmal choreoathetosis, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple Cutaneous and Mucosal Venous Malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy hereditary sensory and autonomic type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly with mental retardation and digital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth retardation, developmental delay, coarse facies, and early death Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory skin and bowel disease, neonatal, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anemia sideroblastic and spinocerebellar ataxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facial dysmorphism, immunodeficiency, livedo, and short stature Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, congenital heart defects, and posterior embryotoxon Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infertility associated with multi-tailed spermatozoa and excessive DNA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Iris coloboma with ptosis, hypertelorism, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mullerian aplasia and hyperandrogenism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Knuckle pads, deafness AND leukonychia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multicentric osteolysis, nodulosis and arthropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stapes ankylosis with broad thumb and toes Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal dystrophy and perceptive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, hereditary motor and sensory, Okinawa type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, short stature, and impaired glucose metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macrocephaly, alopecia, cutis laxa, and scoliosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination and Congenital Cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiomyopathy dilated with woolly hair and keratoderma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, renal dysfunction, and cholestasis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract and cardiomyopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory skin and bowel disease, neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, microphthalmia and nystagmus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and anterior segment dysgenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bone fragility with contractures, arterial rupture, and deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bone fragility with contractures, arterial rupture, and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary Paragangliomas and Pheochromocytomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary Paragangliomas and Pheochromocytomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Band-like calcification with simplified gyration and polymicrogyria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Band-like calcification with simplified gyration and polymicrogyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, epilepsy, and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia and hypogonadotropic hypogonadism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia and hypogonadotropic hypogonadism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Optic atrophy and cataract, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, juvenile, with microcornea and glucosuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, juvenile, with microcornea and glucosuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, deafness, and narcolepsy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, deafness, and narcolepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Juvenile macular degeneration and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Juvenile macular degeneration and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary motor and sensory neuropathy with optic atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary motor and sensory neuropathy with optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary leiomyomatosis and renal cell cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary leiomyomatosis and renal cell cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, hiatal hernia and nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pancreatic agenesis and congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined malonic and methylmalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, myopic chorioretinal atrophy, and telecanthus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcornea, myopic chorioretinal atrophy, and telecanthus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glomerulocystic kidney disease with hyperuricemia and isosthenuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glomerulocystic kidney disease with hyperuricemia and isosthenuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis Gyrata syndrome of Beare and Stevenson Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aniridia, cerebellar ataxia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked hereditary motor and sensory neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked hereditary motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniosynostosis and dental anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniosynostosis and dental anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, hyperphagia, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebroretinal microangiopathy with calcifications and cysts Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebroretinal microangiopathy with calcifications and cysts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Generalized epilepsy and paroxysmal dyskinesia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Generalized epilepsy and paroxysmal dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alacrima, achalasia, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, normal intelligence and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, normal intelligence and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Calcification of joints and arteries Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Calcification of joints and arteries phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypotrichosis and recurrent skin vesicles Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypotrichosis and recurrent skin vesicles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutaneous telangiectasia and cancer syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pineal hyperplasia AND diabetes mellitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Morbid obesity and spermatogenic failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Morbid obesity and spermatogenic failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skeletal defects, genital hypoplasia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Striatal necrosis, bilateral, and progressive polyneuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Striatal necrosis, bilateral, and progressive polyneuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary sensory and autonomic neuropathy type IIA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary sensory and autonomic neuropathy type IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia, high, with cataract and vitreoretinal degeneration Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia, high, with cataract and vitreoretinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Camptodactyly, tall stature, and hearing loss syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal fragility keratoglobus, blue sclerae AND joint hypermobility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyogenic arthritis, pyoderma gangrenosum and acne Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyogenic arthritis, pyoderma gangrenosum and acne phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, cochlear, with myopia and intellectual impairment Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, cochlear, with myopia and intellectual impairment phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, postnatal progressive, with seizures and brain atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial sorting and assembly machinery complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial sorting and assembly machinery complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the calcium- and calmodulin-dependent protein kinase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cortical layer of collagen and cuticulin-based cuticle extracellular matrix Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cortical layer of collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

collagen and cuticulin-based cuticle extracellular matrix Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mrna cleavage and polyadenylation specificity factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

collagen and cuticulin-based cuticle extracellular matrix part Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the collagen and cuticulin-based cuticle extracellular matrix part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial sorting and assembly machinery complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial sorting and assembly machinery complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) Gene Set

From CORUM Protein Complexes

proteins in the TRBP containing complex (DICER, RPL7A, EIF6, MOV10 and subunits of the 60S ribosomal particle) protein complex from the CORUM Protein Complexes dataset.

NRD complex (Nucleosome remodeling and deacetylation complex) Gene Set

From CORUM Protein Complexes

proteins in the NRD complex (Nucleosome remodeling and deacetylation complex) protein complex from the CORUM Protein Complexes dataset.

6S methyltransferase and RG-containing Sm proteins complex Gene Set

From CORUM Protein Complexes

proteins in the 6S methyltransferase and RG-containing Sm proteins complex protein complex from the CORUM Protein Complexes dataset.

Remodeling and spacing factor (RSF) complex Gene Set

From CORUM Protein Complexes

proteins in the Remodeling and spacing factor (RSF) complex protein complex from the CORUM Protein Complexes dataset.

PBAF complex (Polybromo- and BAF containing complex) Gene Set

From CORUM Protein Complexes

proteins in the PBAF complex (Polybromo- and BAF containing complex) protein complex from the CORUM Protein Complexes dataset.

Cleavage and polyadenylation factor (CPSF) Gene Set

From CORUM Protein Complexes

proteins in the Cleavage and polyadenylation factor (CPSF) protein complex from the CORUM Protein Complexes dataset.

Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L Gene Set

From CORUM Protein Complexes

proteins in the Apoptosis- and splicing-associated protein complex (ASAP-L), SAP18-RNPS1-Acinus-L protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate I/200kD and III/250kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Nucleic and chromatin Fanconi complex Gene Set

From CORUM Protein Complexes

proteins in the Nucleic and chromatin Fanconi complex protein complex from the CORUM Protein Complexes dataset.

Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial Gene Set

From CORUM Protein Complexes

proteins in the Respiratory chain complex I (intermediate V/380kD and VI/480kD), mitochondrial protein complex from the CORUM Protein Complexes dataset.

Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S Gene Set

From CORUM Protein Complexes

proteins in the Apoptosis- and splicing-associated protein complex (ASAP-S), SAP18-RNPS1-Acinus-S protein complex from the CORUM Protein Complexes dataset.

ATP-utilizing chromatin assembly and remodeling factor (hACF) complex Gene Set

From CORUM Protein Complexes

proteins in the ATP-utilizing chromatin assembly and remodeling factor (hACF) complex protein complex from the CORUM Protein Complexes dataset.

20S methylosome and RG-containing Sm protein complex Gene Set

From CORUM Protein Complexes

proteins in the 20S methylosome and RG-containing Sm protein complex protein complex from the CORUM Protein Complexes dataset.

Amino Acids, Peptides, and Proteins Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Amino Acids, Peptides, and Proteins from the curated CTD Gene-Chemical Interactions dataset.

Bile Acids and Salts Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Bile Acids and Salts from the curated CTD Gene-Chemical Interactions dataset.

Prime and Bond NT Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Prime and Bond NT from the curated CTD Gene-Chemical Interactions dataset.

drospirenone and ethinyl estradiol combination Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical drospirenone and ethinyl estradiol combination from the curated CTD Gene-Chemical Interactions dataset.

Hypophosphatemic Rickets And Hyperparathyroidism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatemic Rickets And Hyperparathyroidism from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation from the curated CTD Gene-Disease Associations dataset.

Fibular hypoplasia and complex brachydactyly Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibular hypoplasia and complex brachydactyly from the curated CTD Gene-Disease Associations dataset.

Synovitis granulomatous with uveitis and cranial neuropathies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Synovitis granulomatous with uveitis and cranial neuropathies from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset.

Hereditary Sensory and Motor Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Sensory and Motor Neuropathy from the curated CTD Gene-Disease Associations dataset.

Preaxial deficiency, postaxial polydactyly and hypospadias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset.

Combined Cellular And Humoral Immune Defects With Granulomas Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Combined Cellular And Humoral Immune Defects With Granulomas from the curated CTD Gene-Disease Associations dataset.

OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS from the curated CTD Gene-Disease Associations dataset.

Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset.

Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset.

Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp from the curated CTD Gene-Disease Associations dataset.

Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis from the curated CTD Gene-Disease Associations dataset.

Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema from the curated CTD Gene-Disease Associations dataset.

Microtia, Hearing Impairment, And Cleft Palate Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microtia, Hearing Impairment, And Cleft Palate from the curated CTD Gene-Disease Associations dataset.

OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type IIB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type IIB from the curated CTD Gene-Disease Associations dataset.

Acromegaloid features, overgrowth, cleft palate, and hernia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Acromegaloid features, overgrowth, cleft palate, and hernia from the curated CTD Gene-Disease Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome from the curated CTD Gene-Disease Associations dataset.

46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS from the curated CTD Gene-Disease Associations dataset.

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease from the curated CTD Gene-Disease Associations dataset.

Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress from the curated CTD Gene-Disease Associations dataset.

Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis from the curated CTD Gene-Disease Associations dataset.

Craniosynostosis, anal anomalies, and porokeratosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniosynostosis, anal anomalies, and porokeratosis from the curated CTD Gene-Disease Associations dataset.

Sacral defect and anterior sacral meningocele Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sacral defect and anterior sacral meningocele from the curated CTD Gene-Disease Associations dataset.

Classical Lissencephalies and Subcortical Band Heterotopias Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Classical Lissencephalies and Subcortical Band Heterotopias from the curated CTD Gene-Disease Associations dataset.

Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness from the curated CTD Gene-Disease Associations dataset.

Optic atrophy 1 and deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic atrophy 1 and deafness from the curated CTD Gene-Disease Associations dataset.

Neuropathy, hereditary motor and sensory, Russe type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, hereditary motor and sensory, Russe type from the curated CTD Gene-Disease Associations dataset.

Blepharophimosis, Ptosis, and Epicanthus Inversus Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Blepharophimosis, Ptosis, and Epicanthus Inversus from the curated CTD Gene-Disease Associations dataset.

Hypotrichosis And Recurrent Skin Vesicles Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypotrichosis And Recurrent Skin Vesicles from the curated CTD Gene-Disease Associations dataset.

Signs and Symptoms, Digestive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Signs and Symptoms, Digestive from the curated CTD Gene-Disease Associations dataset.

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia from the curated CTD Gene-Disease Associations dataset.

Methylmalonic Aciduria and Homocystinuria, CblD Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Methylmalonic Aciduria and Homocystinuria, CblD Type from the curated CTD Gene-Disease Associations dataset.

Head and Neck Neoplasms Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Head and Neck Neoplasms from the curated CTD Gene-Disease Associations dataset.

MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset.

Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects from the curated CTD Gene-Disease Associations dataset.

Cataract, Juvenile, With Microcornea And Glucosuria Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Juvenile, With Microcornea And Glucosuria from the curated CTD Gene-Disease Associations dataset.

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER from the curated CTD Gene-Disease Associations dataset.

Venous Malformations, Multiple Cutaneous and Mucosal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Venous Malformations, Multiple Cutaneous and Mucosal from the curated CTD Gene-Disease Associations dataset.

BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA from the curated CTD Gene-Disease Associations dataset.

Postoperative Nausea and Vomiting Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Postoperative Nausea and Vomiting from the curated CTD Gene-Disease Associations dataset.

Myopathy with lactic acidosis and sideroblastic anemia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy with lactic acidosis and sideroblastic anemia from the curated CTD Gene-Disease Associations dataset.

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells from the curated CTD Gene-Disease Associations dataset.

Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset.

MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY from the curated CTD Gene-Disease Associations dataset.

Keratitis, Ichthyosis, and Deafness (KID) Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Keratitis, Ichthyosis, and Deafness (KID) Syndrome from the curated CTD Gene-Disease Associations dataset.

Bifid Nose With Or Without Anorectal And Renal Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Bifid Nose With Or Without Anorectal And Renal Anomalies from the curated CTD Gene-Disease Associations dataset.

Congenital Cataracts, Facial Dysmorphism, And Neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital Cataracts, Facial Dysmorphism, And Neuropathy from the curated CTD Gene-Disease Associations dataset.

Corneal dystrophy and perceptive deafness Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Corneal dystrophy and perceptive deafness from the curated CTD Gene-Disease Associations dataset.

VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY from the curated CTD Gene-Disease Associations dataset.

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset.

Hypopituitarism and septooptic 'dysplasia' Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypopituitarism and septooptic 'dysplasia' from the curated CTD Gene-Disease Associations dataset.

PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL from the curated CTD Gene-Disease Associations dataset.

Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps from the curated CTD Gene-Disease Associations dataset.

Aplasia of Lacrimal and Salivary Glands Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Aplasia of Lacrimal and Salivary Glands from the curated CTD Gene-Disease Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA from the curated CTD Gene-Disease Associations dataset.

Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities from the curated CTD Gene-Disease Associations dataset.

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY from the curated CTD Gene-Disease Associations dataset.

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria from the curated CTD Gene-Disease Associations dataset.

Calcification of Joints and Arteries Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Calcification of Joints and Arteries from the curated CTD Gene-Disease Associations dataset.

CHOANAL ATRESIA AND LYMPHEDEMA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CHOANAL ATRESIA AND LYMPHEDEMA from the curated CTD Gene-Disease Associations dataset.

Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis from the curated CTD Gene-Disease Associations dataset.

Hereditary Motor And Sensory Neuropathy, Type IIC Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy, Type IIC from the curated CTD Gene-Disease Associations dataset.

Asthma, Nasal Polyps, And Aspirin Intolerance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Asthma, Nasal Polyps, And Aspirin Intolerance from the curated CTD Gene-Disease Associations dataset.

Neoplasms, Germ Cell and Embryonal Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neoplasms, Germ Cell and Embryonal from the curated CTD Gene-Disease Associations dataset.

Hereditary Motor And Sensory Neuropathy VI Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary Motor And Sensory Neuropathy VI from the curated CTD Gene-Disease Associations dataset.

Cutis Gyrata Syndrome of Beare And Stevenson Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Gyrata Syndrome of Beare And Stevenson from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 from the curated CTD Gene-Disease Associations dataset.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 from the curated CTD Gene-Disease Associations dataset.

Wounds and Injuries Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Wounds and Injuries from the curated CTD Gene-Disease Associations dataset.

Schizophrenia and Disorders with Psychotic Features Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Schizophrenia and Disorders with Psychotic Features from the curated CTD Gene-Disease Associations dataset.

Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration from the curated CTD Gene-Disease Associations dataset.

Sleep Initiation and Maintenance Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sleep Initiation and Maintenance Disorders from the curated CTD Gene-Disease Associations dataset.